US 2026/0097008 A1Published application

Acetyl leucine for use in treating niemann-pick disease type c

OwnerMichael STRUPPinventor

Life of this patent

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Abstract

The present disclosure provides methods of treating NPC, or a neurological symptom thereof, in a subject by administering a therapeutically effective amount of N-acetyl leucine, wherein the subject has one or more NPC1 mutations.

Claims31

Dependent claims

A method of treating or preventing Niemann-Pick disease type C (NPC), or a neurological symptom thereof, in a subject in need thereof, the method comprising administering a therapeutically effective amount of N-acetyl-DL-leucine, or a pharmaceutically acceptable salt thereof, or N-acetyl-L-leucine, or a pharmaceutically acceptable salt thereof, to the subject, wherein the subject has any one or more of the following NPC1 gene mutations:

c.3019C>G p. (Pro1007Ala);
c.1654+5G>A, p. (?);
c.275A>G (p.Gln92Arg);
c.1918G>A (p.Gly640Arg);
c.[1918G>A](p. [Gly640Arg](±) [3451G>A] p.Ala1151Thr);
c.2861C>T, p. (Ser954Leu);
c.1574A>T p. (asp525Val);
c.306T>G p.Tyr102*;
c.180G>T p.Gln60His;
homozygous c.1918G>A (p.Gly640Arg);
c.3451G>A (p.Ala1151Thr);
c.2474 A>G p. (Tyr825Cys);
c.2780C>T (p.A1a927Val);
c.1295delG (p.Gly432Aspfs*17);
homozygous T3128->C (Ile1061->Thr);
p.11061T;
p.D948N;
homozygous c.3246-5_3246-7del;
c.2819C<T (p.Ser940Leu);
c.2657G>T;
c.2932C>T;
c.2692G>A;
c.3773delCC;
homozygous c.3122A>G (p.Tyr1041Cys);
homozygous p. Val1165Met;
homozygous c.2662C>T (p.P888S);
c.478T>C (p.C160R);
c.665A>G (p.N222S);
c.3106A>G (p.T1036A);
c.2861C>T p. (Ser954Leu) in exon 19;
c.3027del p. (Lys1010Serfs*30) in exon 20;
c.[2096T>A];
c.[2861C>T];
c.[2780 C>T];
c.[2780 C>T];
c.[2039dupT];
heterozygous c1947+5 G>C, c.3107 C>T;
heterozygous c1554-1009 G>A, c3182T>C p (Ile1081Thr);
homozygous c.1408G>C p. (Ala470Pro);
homozygous c.2509A>G p. (Ile837Val);
compound heterozygous c.3182T>C p. (Ile1061Thr);
compound heterozygous c.3611_3614del p. (Leu1204GInfs*37);
compound heterozygous c.2713C>A p. (Gln905Lys);
compound heterozygous c.3182T>C p. (Ile1061Thr);
c.3493G>A (p. Val1165Met) in exon 23;
p.Ser901Tyr+p.Asn222Ser;
c.1554-1009G>A;
compound heterozygous c.3182T.C p. (IIe1061Thr);
compound heterozygous c.3019C.G p. (Pro1007Ala);
c.2660C>T (p.Pro887Leu);
c.3019C>G (p.Pro1007Ala);
homozygous c.3394G>C p.A1132P;
heterozygous chr18:21115645 C>G p.Glu1089Gln;
heterozygous chr. 18:21118528 G>C p.Pro1007Ala;
heterozygous c.3019C>G p.P1007A;
heterozygous c.3104C>T p.A1035V;
heterozygous c.2762A>G p.Q921P;
heterozygous c.3106A>G p.T1036A;
heterozygous c.3182T.C p.I1061T;
heterozygous c.3104C>T p.A1035V;
homozygous c.2728G>A pGly910Ser;
heterozygous c.1211G>A p.R404Q;
heterozygous c.3493G>A p.V1165M;
heterozygous c.1114C>T p.R372W;
heterozygous c.3322dupG p.A1108Gfs*13;
[c.3182T>C, (p.I1061T)];
[c.2893C>T, (p.Q965*)];
[c.2849T>C, (p.V950G)];
homozygous c.3019C>G, (p.P1007A);
[c.2090T>C, (p.V697A)];
[c.3246-25A>G];
[c.1926G>C, (p.M641I)];
heterozygous p.R615C;
heterozygous p.G1015V;
homozygous c.1654+6T>A;
heterozygous p.Arg518Trp;
heterozygous p.Asp1156Ser;
heterozygous p.Asp1097Asn;
and/or
heterozygous p.Tyr1088Cys.

77 more elements

A method of treating a subject having NPC, or a neurological symptom thereof, the method comprising:

(a) determining whether any one or more of the following NPC1 gene mutations are present or absent in a biological sample taken from the subject:
c.3019C>G p. (Pro1007Ala);
c.1654+5G>A, p. (?);
c.275A>G (p.Gln92Arg);
c.1918G>A (p.Gly640Arg);
c.[1918G>A](p. [Gly640Arg](±) [3451G>A] p.Ala1151Thr);
c.2861C>T, p. (Ser954Leu);
c.1574A>T p. (asp525Val);
c.306T>G p.Tyr102*;
c.180G>T p.Gln60His;
homozygous c.1918G>A (p.Gly640Arg);
c.3451G>A (p.Ala1151Thr);
c.2474 A>G p. (Tyr825Cys);
c.2780C>T (p.Ala927Val);
c.1295delG (p.Gly432Aspfs*17);
homozygous T3128->C (Ile1061->Thr);
p.I1061T;
p.D948N;
homozygous c.3246-5_3246-7del;
c.2819C<T (p.Ser940Leu);
c.2657G>T;
c.2932C>T;
c.2692G>A;
c.3773delCC;
homozygous c.3122A>G (p.Tyr1041Cys);
homozygous p. Val1165Met;
homozygous c.2662C>T (p.P888S);
c.478T>C (p.C160R);
c.665A>G (p.N222S);
c.3106A>G (p.T1036A);
c.2861C>T p. (Ser954Leu) in exon 19;
c.3027del p. (Lys1010Serfs*30) in exon 20;
c.[2096T>A];
c.[2861C>T];
c.[2780 C>T];
c.[2780 C>T];
c.[2039dupT];
heterozygous c1947+5 G>C, c.3107 C>T;
heterozygous c1554-1009 G>A, c3182T>C p (Ile1081Thr);
homozygous c.1408G>C p. (Ala470Pro);
homozygous c.2509A>G p. (Ile837Val);
compound heterozygous c.3182T>C p. (Ile1061Thr);
compound heterozygous c.3611_3614del p. (Leu1204GInfs*37);
compound heterozygous c.2713C>A p. (Gln905Lys);
compound heterozygous c.3182T>C p. (Ile1061Thr);
c.3493G>A (p. Val1165Met) in exon 23;
p.Ser901Tyr+p.Asn222Ser;
c.1554-1009G>A;
compound heterozygous c.3182T.C p. (Ile1061Thr);
compound heterozygous c.3019C.G p. (Pro1007Ala);
c.2660C>T (p.Pro887Leu);
c.3019C>G (p.Pro1007Ala);
homozygous c.3394G>C p.A1132P;
heterozygous chr18:21115645 C>G p.Glu1089Gln;
heterozygous chr. 18:21118528 G>C p.Pro1007Ala;
heterozygous c.3019C>G p.P1007A;
heterozygous c.3104C>T p.A1035V;
heterozygous c.2762A>G p.Q921P;
heterozygous c.3106A>G p.T1036A;
heterozygous c.3182T.C p.I1061T;
heterozygous c.3104C>T p.A1035V;
homozygous c.2728G>A pGly910Ser;
heterozygous c.1211G>A p.R404Q;
heterozygous c.3493G>A p.V1165M;
heterozygous c.1114C>T p.R372W;
heterozygous c.3322dupG p.A1108Gfs*13;
[c.3182T>C, (p.I1061T)];
[c.2893C>T, (p.Q965*)];
[c.2849T>C, (p.V950G)];
homozygous c.3019C>G, (p.P1007A);
[c.2090T>C, (p.V697A)];
[c.3246-25A>G];
[c.1926G>C, (p.M641I)];
heterozygous p.R615C;
heterozygous p.G1015V;
homozygous c.1654+6T>A;
heterozygous p.Arg518Trp;
heterozygous p.Asp1156Ser;
heterozygous p.Asp1097Asn;
and/or
heterozygous p. Tyr1088Cys;
and
(b) administering a therapeutically effective amount of N-acetyl-DL-leucine, or a pharmaceutically acceptable salt thereof, or N-acetyl-L-leucine, or a pharmaceutically acceptable salt thereof, to the subject if any one or more of the NPC1 gene mutations are present in the biological sample.

80 more elements

A method, comprising administering a therapeutically effective amount of N-acetyl-DL-leucine, or a pharmaceutically acceptable salt thereof, or N-acetyl-L-leucine, or a pharmaceutically acceptable salt thereof, to a subject in need thereof, wherein:

(a) the subject has NPC, or a neurological symptom thereof;
and
(b) any one or more of the following NPC1 gene mutations is present in a biological sample taken from the subject:
c.3019C>G p. (Pro1007Ala);
c.1654+5G>A, p. (?);
c.275A>G (p.Gln92Arg);
c.1918G>A (p.Gly640Arg);
c.[1918G>A](p. [Gly640Arg](±) [3451G>A] p.Ala1151Thr);
c.2861C>T, p. (Ser954Leu);
c.1574A>T p. (asp525Val);
c.306T>G p.Tyr102*;
c.180G>T p.Gln60His;
homozygous c.1918G>A (p.Gly640Arg);
c.3451G>A (p.Ala1151Thr);
c.2474 A>G p. (Tyr825Cys);
c.2780C>T (p.Ala927Val);
c.1295delG (p.Gly432Aspfs*17);
homozygous T3128->C (Ile1061->Thr);
p.I1061T;
p.D948N;
homozygous c.3246-5_3246-7del;
c.2819C<T (p.Ser940Leu);
c.2657G>T;
c.2932C>T;
c.2692G>A;
c.3773delCC;
homozygous c.3122A>G (p.Tyr1041Cys);
homozygous p. Val1165Met;
homozygous c.2662C>T (p.P888S);
c.478T>C (p.C160R);
c.665A>G (p.N222S);
c.3106A>G (p.T1036A);
c.2861C>T p. (Ser954Leu) in exon 19;
c.3027del p. (Lys1010Serfs*30) in exon 20;
c.[2096T>A];
c.[2861C>T];
c.[2780 C>T];
c.[2780 C>T];
c.[2039dupT];
heterozygous c1947+5 G>C, c.3107 C>T;
heterozygous c1554-1009 G>A, c3182T>C p (Ile1081Thr);
homozygous c.1408G>C p. (Ala470Pro);
homozygous c.2509A>G p. (Ile837Val);
compound heterozygous c.3182T>C p. (Ile1061Thr);
compound heterozygous c.3611_3614del p. (Leu1204GInfs*37);
compound heterozygous c.2713C>A p. (Gln905Lys);
compound heterozygous c.3182T>C p. (Ile1061Thr);
c.3493G>A (p. Val1165Met) in exon 23;
p.Ser901Tyr+p.Asn222Ser;
c.1554-1009G>A;
compound heterozygous c.3182T.C p. (IIe1061Thr);
compound heterozygous c.3019C.G p. (Pro1007Ala);
c.2660C>T (p.Pro887Leu);
c.3019C>G (p.Pro1007Ala);
homozygous c.3394G>C p.A1132P;
heterozygous chr18:21115645 C>G p.Glu1089Gln;
heterozygous chr. 18:21118528 G>C p.Pro1007Ala;
heterozygous c.3019C>G p.P1007A;
heterozygous c.3104C>T p.A1035V;
heterozygous c.2762A>G p.Q921P;
heterozygous c.3106A>G p.T1036A;
heterozygous c.3182T.C p.I1061T;
heterozygous c.3104C>T p.A1035V;
homozygous c.2728G>A pGly910Ser;
heterozygous c.1211G>A p.R404Q;
heterozygous c.3493G>A p.V1165M;
heterozygous c.1114C>T p.R372W;
heterozygous c.3322dupG p.A1108Gfs*13;
[c.3182T>C, (p.I1061T)];
[c.2893C>T, (p.Q965*)];
[c.2849T>C, (p.V950G)];
homozygous c.3019C>G, (p.P1007A);
[c.2090T>C, (p.V697A)];
[c.3246-25A>G];
[c.1926G>C, (p.M641I)];
heterozygous p.R615C;
heterozygous p.G1015V;
homozygous c.1654+6T>A;
heterozygous p.Arg518Trp;
heterozygous p.Asp1156Ser;
heterozygous p.Asp1097Asn;
and/or
heterozygous p.Tyr1088Cys.

80 more elements

Dependencies are inferred from the claim text.

Facts

Application: 19/352,209Filed 7 Oct 2025
Priority: 7 Oct 2024
Published: 9 Apr 2026
Term ends: Not estimatedThe source records don’t support an estimate.

Classification5 codes

A61K 31/198
The amino and the carboxyl groups being attached to the same acyclic carbon chain, e.g. gamma-aminobutyric acid [GABA], beta-alanine,…:…
A61K 31/445
Non condensed pyridines; Hydrogenated derivatives thereof: non condensed piperidines, e.g. piperocaine
A61P 25/28
Drugs for disorders of the nervous system: for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents,…
A61K
Medicines and medical preparations

Family

Application63/704,296Us provisional application · filed 7 Oct 2024
Application63/811,423Us provisional application · filed 23 May 2025
US 2026/0097008 A1This patent

From the US filing history. Foreign family members aren’t listed.

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Abstract

c.3019C>G p. (Pro1007Ala);
c.1654+5G>A, p. (?);
c.275A>G (p.Gln92Arg);
c.1918G>A (p.Gly640Arg);
c.[1918G>A](p. [Gly640Arg](±) [3451G>A] p.Ala1151Thr);
c.2861C>T, p. (Ser954Leu);
c.1574A>T p. (asp525Val);
c.306T>G p.Tyr102*;
c.180G>T p.Gln60His;
homozygous c.1918G>A (p.Gly640Arg);
c.3451G>A (p.Ala1151Thr);
c.2474 A>G p. (Tyr825Cys);
c.2780C>T (p.A1a927Val);
c.1295delG (p.Gly432Aspfs*17);
homozygous T3128->C (Ile1061->Thr);
p.11061T;
p.D948N;
homozygous c.3246-5_3246-7del;
c.2819C<T (p.Ser940Leu);
c.2657G>T;
c.2932C>T;
c.2692G>A;
c.3773delCC;
homozygous c.3122A>G (p.Tyr1041Cys);
homozygous p. Val1165Met;
homozygous c.2662C>T (p.P888S);
c.478T>C (p.C160R);
c.665A>G (p.N222S);
c.3106A>G (p.T1036A);
c.2861C>T p. (Ser954Leu) in exon 19;
c.3027del p. (Lys1010Serfs*30) in exon 20;
c.[2096T>A];
c.[2861C>T];
c.[2780 C>T];
c.[2780 C>T];
c.[2039dupT];
heterozygous c1947+5 G>C, c.3107 C>T;
heterozygous c1554-1009 G>A, c3182T>C p (Ile1081Thr);
homozygous c.1408G>C p. (Ala470Pro);
homozygous c.2509A>G p. (Ile837Val);
compound heterozygous c.3182T>C p. (Ile1061Thr);
compound heterozygous c.3611_3614del p. (Leu1204GInfs*37);
compound heterozygous c.2713C>A p. (Gln905Lys);
compound heterozygous c.3182T>C p. (Ile1061Thr);
c.3493G>A (p. Val1165Met) in exon 23;
p.Ser901Tyr+p.Asn222Ser;
c.1554-1009G>A;
compound heterozygous c.3182T.C p. (IIe1061Thr);
compound heterozygous c.3019C.G p. (Pro1007Ala);
c.2660C>T (p.Pro887Leu);
c.3019C>G (p.Pro1007Ala);
homozygous c.3394G>C p.A1132P;
heterozygous chr18:21115645 C>G p.Glu1089Gln;
heterozygous chr. 18:21118528 G>C p.Pro1007Ala;
heterozygous c.3019C>G p.P1007A;
heterozygous c.3104C>T p.A1035V;
heterozygous c.2762A>G p.Q921P;
heterozygous c.3106A>G p.T1036A;
heterozygous c.3182T.C p.I1061T;
heterozygous c.3104C>T p.A1035V;
homozygous c.2728G>A pGly910Ser;
heterozygous c.1211G>A p.R404Q;
heterozygous c.3493G>A p.V1165M;
heterozygous c.1114C>T p.R372W;
heterozygous c.3322dupG p.A1108Gfs*13;
[c.3182T>C, (p.I1061T)];
[c.2893C>T, (p.Q965*)];
[c.2849T>C, (p.V950G)];
homozygous c.3019C>G, (p.P1007A);
[c.2090T>C, (p.V697A)];
[c.3246-25A>G];
[c.1926G>C, (p.M641I)];
heterozygous p.R615C;
heterozygous p.G1015V;
homozygous c.1654+6T>A;
heterozygous p.Arg518Trp;
heterozygous p.Asp1156Ser;
heterozygous p.Asp1097Asn;
and/or
heterozygous p.Tyr1088Cys.

77 more elements

Facts

Application

19/352,209Filed 7 Oct 2025

Priority

7 Oct 2024

Published

9 Apr 2026

Term ends

Not estimatedThe source records don’t support an estimate.

Classification5 codes

A61K 31/198
The amino and the carboxyl groups being attached to the same acyclic carbon chain, e.g. gamma-aminobutyric acid [GABA], beta-alanine,…:…
A61K 31/445
Non condensed pyridines; Hydrogenated derivatives thereof: non condensed piperidines, e.g. piperocaine
A61P 25/28
Drugs for disorders of the nervous system: for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents,…
A61K
Medicines and medical preparations