A United States-based patient-reported adult polyglucosan body disease registry : initial results
© The Author(s) 2024..
Background: Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene. Knowledge of the demographic and clinical characteristics of APBD patients and the natural history of the disease is lacking. We report here initial results from a patient-reported registry of APBD patients.
Objectives: (1) Maximize the quality of the APBD Registry survey data; (2) provide an initial report on APBD disease progression and natural history using these data; and (3) specify next steps in the process for testing potential new therapies.
Design: Data are from members of the APBD Research Foundation (New York), surveyed from 2014 by the Columbia APBD Patient/Family (CAP) Registry. Inclusion criteria are: disease onset at age 18+ and progressive clinical triad of peripheral neuropathy, spasticity, and neurogenic bladder.
Methods: Genetic testing results were used when available. Respondents found to not have APBD in clinical records were excluded. All changes and exclusions were recorded in a database edit log. Results are reported in frequency tables, bar graphs, time plots, and heat maps.
Results: The 96 respondents meeting inclusion criteria were predominantly (96.8%) White, highly educated (89.3% at least some college education), and mostly (85.1%) of Ashkenazi Jewish descent. 57.1% had at least one parent born in the United States, with at least one grandparent from Europe (excluding Russia; 75.4%), the United States (42.1%), or Russia (33.3%). 37.2% reported a family history of APBD, and 33.3% had an affected sibling. Median APBD onset age was 51 [Interquartile range (IQR) 11], and median age of diagnosis 57 (IQR 10.5). The 75 reported prior misdiagnoses were mainly peripheral neuropathy (43, 60.6%) and spinal stenosis (11, 15.1%).
Conclusion: Although from a demographically constricted survey, the results provide basic clinical information for future studies to develop treatments for APBD.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:5 |
|---|---|
| Enthalten in: |
Therapeutic advances in rare disease - 5(2024) vom: 01. Jan., Seite 26330040241227452 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Sparks, Jacy [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Adult polyglucosan body disease |
|---|
| Anmerkungen: |
Date Revised 07.03.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.1177/26330040241227452 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM369351002 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM369351002 | ||
| 003 | DE-627 | ||
| 005 | 20240307232745.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240306s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1177/26330040241227452 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1319.xml |
| 035 | |a (DE-627)NLM369351002 | ||
| 035 | |a (NLM)38445267 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Sparks, Jacy |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A United States-based patient-reported adult polyglucosan body disease registry |b initial results |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 07.03.2024 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a © The Author(s) 2024. | ||
| 520 | |a Background: Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene. Knowledge of the demographic and clinical characteristics of APBD patients and the natural history of the disease is lacking. We report here initial results from a patient-reported registry of APBD patients | ||
| 520 | |a Objectives: (1) Maximize the quality of the APBD Registry survey data; (2) provide an initial report on APBD disease progression and natural history using these data; and (3) specify next steps in the process for testing potential new therapies | ||
| 520 | |a Design: Data are from members of the APBD Research Foundation (New York), surveyed from 2014 by the Columbia APBD Patient/Family (CAP) Registry. Inclusion criteria are: disease onset at age 18+ and progressive clinical triad of peripheral neuropathy, spasticity, and neurogenic bladder | ||
| 520 | |a Methods: Genetic testing results were used when available. Respondents found to not have APBD in clinical records were excluded. All changes and exclusions were recorded in a database edit log. Results are reported in frequency tables, bar graphs, time plots, and heat maps | ||
| 520 | |a Results: The 96 respondents meeting inclusion criteria were predominantly (96.8%) White, highly educated (89.3% at least some college education), and mostly (85.1%) of Ashkenazi Jewish descent. 57.1% had at least one parent born in the United States, with at least one grandparent from Europe (excluding Russia; 75.4%), the United States (42.1%), or Russia (33.3%). 37.2% reported a family history of APBD, and 33.3% had an affected sibling. Median APBD onset age was 51 [Interquartile range (IQR) 11], and median age of diagnosis 57 (IQR 10.5). The 75 reported prior misdiagnoses were mainly peripheral neuropathy (43, 60.6%) and spinal stenosis (11, 15.1%) | ||
| 520 | |a Conclusion: Although from a demographically constricted survey, the results provide basic clinical information for future studies to develop treatments for APBD | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Adult polyglucosan body disease | |
| 650 | 4 | |a clinical manifestations | |
| 650 | 4 | |a demographics | |
| 650 | 4 | |a registry | |
| 700 | 1 | |a Michelassi, Francesco |e verfasserin |4 aut | |
| 700 | 1 | |a Thompson, John L P |e verfasserin |4 aut | |
| 700 | 1 | |a Buchsbaum, Richard |e verfasserin |4 aut | |
| 700 | 1 | |a Pires, Natacha |e verfasserin |4 aut | |
| 700 | 1 | |a DeRosa, Janet T |e verfasserin |4 aut | |
| 700 | 1 | |a Engelstad, Kristin |e verfasserin |4 aut | |
| 700 | 1 | |a DiMauro, Salvatore |e verfasserin |4 aut | |
| 700 | 1 | |a Akman, Hasan Orhan |e verfasserin |4 aut | |
| 700 | 1 | |a Hirano, Michio |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Therapeutic advances in rare disease |d 2020 |g 5(2024) vom: 01. Jan., Seite 26330040241227452 |w (DE-627)NLM356286088 |x 2633-0040 |7 nnns |
| 773 | 1 | 8 | |g volume:5 |g year:2024 |g day:01 |g month:01 |g pages:26330040241227452 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1177/26330040241227452 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 5 |j 2024 |b 01 |c 01 |h 26330040241227452 | ||