Neuronal Ceroid LipofuscinosisNCT04613089
Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
An observational study of Neuronal Ceroid Lipofuscinosis and Batten Disease, run by Universitätsklinikum Hamburg-Eppendorf at 1 site in Germany.
Trial summary
This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database. 1. Patient data are collected from medical records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neuronal Ceroid Lipofuscinosis, Batten Disease, CLN1 Disease
- What is being tested?
- Natural History
- How many people
- 500 participants
- Where
- 1 siteGermany
- Study dates
- 8 Apr 2020to 8 Apr 2050
- How long will I take part?
- 30 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Children, Adolescents, Adults
Who may be able to join
- Patients with a confirmed molecular diagnosis of a form of NCL Disease
- Additional inclusion criteria for Group/Cohort: "CLN2 Disease - ERT (Brineura) Treated":
- Documented diagnosis of TPP1 deficiency
- Previous or current treatment with intracerebroventricular ERT with cerliponase alpha
- Patients that are currently participating in post-marketing studies will be allowed to participate.
Who cannot join
- Patients with no confirmed molecular diagnosis of a form of NCL Disease
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Germany1 site, 1 recruiting
- Recruiting
University Medical Center Hamburg-Eppendorf
Hamburg, 20246
Miriam Nickel, MD, +4940741020440, m.nickel@uke.de
Angela Schulz, MD, PhD, +4940741020440, anschulz@uke.de
About this study
Official title: Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database
This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database.
- Patient data are collected from medical records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease such as motor, language, cognition, seizures, vision, and behavior.
- A local biorepository of samples from genetically defined NCL patients will be established as well as a virtual biorepository within the DEM-CHILD DB to be able to easily localize international availability of patient samples.
Read the detailed description
NCLs (Neuronal Ceroid Lipofuscinoses) are a group of rare, inherited, neurodegenerative disorders, also known as Batten disease. Until now, 13 different genes causing different subtypes of disease are known. The genetic mutations cause a symptom complex of progressive loss of acquired skills in the domains of motor function, cognition and visual function, leading to ataxia, movement disorder, dementia, blindness and seizures. In the area of genetic testing, variable clinical phenotypes become more and more prevalent. The disease-mechanisms as well as the exact clinical course of the diseases are currently still not fully understood and documented. Although descriptions of the clinical spectrums exist, the natural history needs to be defined as accurately as possible. These data are urgently needed as clinical control data helping to test the therapeutic efficacy of emerging experimental therapies.
Since samples of genetically defined patients are rare and therefore limited for research, there is an urgent need for researchers to localize and access samples internationally. With the establishment of a local NCL-biorepository and virtual sample localization internationally, scientists worldwide may have a faster way to access needed samples for advancing research.
Any NCL patient with a confirmed molecular diagnosis can join the retrospective and prospective natural history data collection. It is also possible for families with already deceased patients to participate in the retrospective analysis part of the data collection if the genetic mutation is known.
- Conditions
- Neuronal Ceroid Lipofuscinosis, Batten Disease, CLN1 Disease, CLN2 Disease, CLN3 Disease, CLN4 Disease
- Being tested
- Natural History
- Keywords
- INCL, LINCL, VLINCL, JNCL, ANCL, NCL, CLN, Batten, Childhood Dementia, Lysosomal Storage Diseases, Neurodegenerative Diseases, Neurodegenerative Disorders, Metabolic Disorders, PME, EPMR, SCAR7, SGSH, PPT1, Haltia-Santavuori Disease, TPP1
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses, Ceroid lipofuscinosis, neuronal 5, Lysosomal Storage Diseases, Neurodegenerative Diseases, Metabolic Diseases, Kufor-Rakeb syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Natural HistoryOther
Natural History and Clinical Follow Up.
| Study group | Role | What they receive |
|---|---|---|
| CLN1 Disease, Haltia-Santavuori Disease | Patients with genetic mutations in the CLN1/PPT1 gene, causing a lysosomal enzyme deficiency of PPT1. Receives: Other: Natural History | |
| CLN2 Disease, Jansky-Bielschowsky Disease | Patients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1. Receives: Other: Natural History | |
| CLN2 Disease - ERT (Brineura) treated | Patients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1, previously and/or currently receiving enzyme-replacement therapy (ERT) with Cerliponase alpha (Brineura). Receives: Other: Natural History | |
| CLN3 Disease, Spielmeyer-Vogt-Sjögren-Batten Disease | Patients with genetic mutations in the CLN3 gene. Receives: Other: Natural History | |
| CLN4 disease, Parry disease | Patients with genetic mutations in the CLN4/DNAJC5 gene. Receives: Other: Natural History | |
| CLN5 Disease | Patients with genetic mutations in the CLN5 gene. Receives: Other: Natural History | |
| CLN6 Disease, Kufs Disease Type A | Patients with genetic mutations in the CLN6 gene. Receives: Other: Natural History | |
| CLN7 Disease | Patients with genetic mutations in the CLN7/MFSD8 gene. Receives: Other: Natural History | |
| CLN8 Disease | Patients with genetic mutations in the CLN8 gene. Receives: Other: Natural History | |
| CLN10 Disease | Patients with genetic mutations in the CLN10/CTSD gene, causing a lysosomal enzyme deficiency of Cathepsin D. Receives: Other: Natural History | |
| CLN11 Disease | Patients with genetic mutations in the CLN11/GRN gene. Receives: Other: Natural History | |
| CLN12 Disease | Patients with genetic mutations in the CLN12/ATP13A2 gene. Receives: Other: Natural History | |
| CLN13 Disease, Kufs Disease Type B | Patients with genetic mutations in the CLN13/CTSF gene, causing a lysosomal enzyme deficiency of Cathepsin F. Receives: Other: Natural History | |
| CLN14 Disease | Patients with genetic mutations in the CLN14/KCTD7 gene. Receives: Other: Natural History |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of key symptoms of disease, natural history of disease progression and development of quantitative tools for rating disease progression that can be used as therapeutic outcome measures for emerging experimental therapies.
Evaluation of Medical history from patient interviews and medical chart review. Evaluating data from clinical routine follow up exams (e.g. brain imaging MRI, ophthalmologic assessments, OCT, EEG, cardiology assessments, cognitive assessments, developmental scales, clinical rating scales).
Measured: Up to 30 years
Establish well characterized Natural History Cohorts from genetically defined NCL patients to provide these as Natural History Control Cohorts for new experimental therapy trials.
Analysis of retrospective and prospective data from patient interviews and medical chart review as well as clinical routine follow up exams (e.g. brain imaging MRI, ophthalmologic assessments, OCT, EEG, cardiology assessments, cognitive assessments, developmental scales, clinical rating scales).
Measured: Up to 30 years
Secondary outcomes (2)
Establish a biorepository of samples from genetically defined NCL patients.
- Collection of biospecimens that have been collected within treatment as part of standard of care.
Measured: Up to 30 years
Establish a virtual biorepository from genetically defined NCL patients within the DEM-CHILD Database.
Datacollection of available biospecimens from genetically defined NCL patients and the collecting center contacts within the DEM-CHILD DB.
Measured: Up to 30 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Nov 2020
- Study start8 Apr 2020
- Primary completion8 Apr 2050 (estimated)
- Study completion8 Apr 2050 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (18)Papers the sponsor has linked to this study.
- Other trials for Neuronal Ceroid LipofuscinosisStudies of the same condition, open and under way.
- More trials run by Universitätsklinikum Hamburg-EppendorfThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 500 participants (estimated)
- Target duration
- 30 Years
Sponsor and investigators
- Lead sponsor
- Universitätsklinikum Hamburg-Eppendorf
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Angela Schulz, Universitätsklinikum Hamburg-Eppendorf
- Investigators
- Angela Schulz, MD, PhD, Principal investigator, Head of NCL-Specialty Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04613089
- Sponsor's protocol ID
- DEM-CHILD2020
- Status last verified
- Oct 2021
- First submitted
- 10 Sep 2020
- Last updated
- 29 Oct 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The goal of the independent international DEM-CHILD DB is to collect high quality natural history data of NCL patients. The independent nature of the database allows to make data available for international research on treatment evaluation and development.
Publications
Rietdorf K, Coode EE, Schulz A, Wibbeler E, Bootman MD, Ostergaard JR. Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165643. doi: 10.1016/j.bbadis.2019.165643. Epub 2019 Dec 19.
PubMed 31863828Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschutter A, Sondhi D, Schulz A. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. Lancet Child Adolesc Health. 2018 Aug;2(8):582-590. doi: 10.1016/S2352-4642(18)30179-2. Epub 2018 Jul 2.
PubMed 30119717Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschutter A; CLN2 Study Group. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.
PubMed 29688815Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. Hum Mutat. 2019 Nov;40(11):1924-1938. doi: 10.1002/humu.23860. Epub 2019 Jul 26.
PubMed 31283065Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvorakova L, Giugliani R, Izzo E, Jahnova H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25.
PubMed 27553878Simonati A, Williams RE, Nardocci N, Laine M, Battini R, Schulz A, Garavaglia B, Moro F, Pezzini F, Santorelli FM. Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5. Dev Med Child Neurol. 2017 Aug;59(8):815-821. doi: 10.1111/dmcn.13473. Epub 2017 May 25.
PubMed 28542837Lebrun AH, Storch S, Ruschendorf F, Schmiedt ML, Kyttala A, Mole SE, Kitzmuller C, Saar K, Mewasingh LD, Boda V, Kohlschutter A, Ullrich K, Braulke T, Schulz A. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. Hum Mutat. 2009 May;30(5):E651-61. doi: 10.1002/humu.21010.
PubMed 19309691Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Lobbecke I, West A, Zernikow B, Schulz A. Management Strategies for CLN2 Disease. Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4.
PubMed 28335910Kohlschutter A, Schulz A, Bartsch U, Storch S. Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses. CNS Drugs. 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8.
PubMed 30877620Lobel U, Sedlacik J, Nickel M, Lezius S, Fiehler J, Nestrasil I, Kohlschutter A, Schulz A. Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression. AJNR Am J Neuroradiol. 2016 Oct;37(10):1938-1943. doi: 10.3174/ajnr.A4816. Epub 2016 May 26.
PubMed 27231226Dulz S, Wagenfeld L, Nickel M, Richard G, Schwartz R, Bartsch U, Kohlschutter A, Schulz A. Novel morphological macular findings in juvenile CLN3 disease. Br J Ophthalmol. 2016 Jun;100(6):824-8. doi: 10.1136/bjophthalmol-2015-307320. Epub 2015 Oct 20.
PubMed 26486417Dulz S, Atiskova Y, Wibbeler E, Wildner J, Wagenfeld L, Schwering C, Nickel M, Bartsch U, Spitzer MS, Schulz A. An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease. Am J Ophthalmol. 2020 Dec;220:64-71. doi: 10.1016/j.ajo.2020.07.015. Epub 2020 Jul 21.
PubMed 32707205Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, McKay TR, Medina DL, Rahim AA, Schulz A, Smith AJ. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Lancet Neurol. 2019 Jan;18(1):107-116. doi: 10.1016/S1474-4422(18)30368-5. Epub 2018 Nov 21.
PubMed 30470609Bergholz R, Kohlschutter A, Schulz A, Hubert W, Ruther K. Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations. Graefes Arch Clin Exp Ophthalmol. 2015 Aug;253(8):1245-50. doi: 10.1007/s00417-014-2814-0. Epub 2014 Oct 22.
PubMed 25338278Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
PubMed 23602993
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database
- ClinicalTrials.gov ID
- NCT04613089
- Acronym / sponsor ID
- DEM-CHILD2020
- Conditions
- Neuronal Ceroid Lipofuscinosis, Batten Disease, CLN1 Disease, CLN2 Disease, CLN3 Disease, CLN4 Disease
- Keywords
- INCL, LINCL, VLINCL, JNCL, ANCL, NCL, CLN, Batten
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Universitätsklinikum Hamburg-EppendorfUniversity, hospital or other
- Study start
- 8 Apr 2020 (actual)
- Primary completion
- 8 Apr 2050 (estimated)
- Study completion
- 8 Apr 2050 (estimated)
- First posted
- 3 Nov 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database.
- Patient data are collected from medical records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease such as motor, language, cognition, seizures, vision, and behavior.
- A local biorepository of samples from genetically defined NCL patients will be established as well as a virtual biorepository within the DEM-CHILD DB to be able to easily localize international availability of patient samples.
Detailed description
NCLs (Neuronal Ceroid Lipofuscinoses) are a group of rare, inherited, neurodegenerative disorders, also known as Batten disease. Until now, 13 different genes causing different subtypes of disease are known. The genetic mutations cause a symptom complex of progressive loss of acquired skills in the domains of motor function, cognition and visual function, leading to ataxia, movement disorder, dementia, blindness and seizures. In the area of genetic testing, variable clinical phenotypes become more and more prevalent. The disease-mechanisms as well as the exact clinical course of the diseases are currently still not fully understood and documented. Although descriptions of the clinical spectrums exist, the natural history needs to be defined as accurately as possible. These data are urgently needed as clinical control data helping to test the therapeutic efficacy of emerging experimental therapies.
Since samples of genetically defined patients are rare and therefore limited for research, there is an urgent need for researchers to localize and access samples internationally. With the establishment of a local NCL-biorepository and virtual sample localization internationally, scientists worldwide may have a faster way to access needed samples for advancing research.
Any NCL patient with a confirmed molecular diagnosis can join the retrospective and prospective natural history data collection. It is also possible for families with already deceased patients to participate in the retrospective analysis part of the data collection if the genetic mutation is known.
Study design
- Observational model
- Other
- Time perspective
- Other
- Target follow-up
- 30 Years
- Number of arms
- 14
| Arm | Type | Receives |
|---|---|---|
| CLN1 Disease, Haltia-Santavuori Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN1/PPT1 gene, causing a lysosomal enzyme deficiency of PPT1. |
| CLN2 Disease, Jansky-Bielschowsky Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1. |
| CLN2 Disease - ERT (Brineura) treated | – | Other: Natural HistoryPatients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1, previously and/or currently receiving enzyme-replacement therapy (ERT) with Cerliponase alpha (Brineura). |
| CLN3 Disease, Spielmeyer-Vogt-Sjögren-Batten Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN3 gene. |
| CLN4 disease, Parry disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN4/DNAJC5 gene. |
| CLN5 Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN5 gene. |
| CLN6 Disease, Kufs Disease Type A | – | Other: Natural HistoryPatients with genetic mutations in the CLN6 gene. |
| CLN7 Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN7/MFSD8 gene. |
| CLN8 Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN8 gene. |
| CLN10 Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN10/CTSD gene, causing a lysosomal enzyme deficiency of Cathepsin D. |
| CLN11 Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN11/GRN gene. |
| CLN12 Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN12/ATP13A2 gene. |
| CLN13 Disease, Kufs Disease Type B | – | Other: Natural HistoryPatients with genetic mutations in the CLN13/CTSF gene, causing a lysosomal enzyme deficiency of Cathepsin F. |
| CLN14 Disease | – | Other: Natural HistoryPatients with genetic mutations in the CLN14/KCTD7 gene. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Children, Adolescents, Adults
Key inclusion criteria (5 listed)
- Patients with a confirmed molecular diagnosis of a form of NCL Disease
- Documented diagnosis of TPP1 deficiency
- Previous or current treatment with intracerebroventricular ERT with cerliponase alpha
- Patients that are currently participating in post-marketing studies will be allowed to participate.
Key exclusion criteria (1 listed)
- Patients with no confirmed molecular diagnosis of a form of NCL Disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Natural HistoryNatural History and Clinical Follow Up. | Other | CLN1 Disease, Haltia-Santavuori Disease, CLN10 Disease, CLN11 Disease, CLN12 Disease, CLN13 Disease, Kufs Disease Type B, CLN14 Disease, CLN2 Disease - ERT (Brineura) treated, CLN2 Disease, Jansky-Bielschowsky Disease, CLN3 Disease, Spielmeyer-Vogt-Sjögren-Batten Disease, CLN4 disease, Parry disease, CLN5 Disease, CLN6 Disease, Kufs Disease Type A, CLN7 Disease, CLN8 Disease |
Primary outcome
Identification of key symptoms of disease, natural history of disease progression and development of quantitative tools for rating disease progression that can be used as therapeutic outcome measures for emerging experimental therapies.
Time frame: Up to 30 years
Evaluation of Medical history from patient interviews and medical chart review. Evaluating data from clinical routine follow up exams (e.g. brain imaging MRI, ophthalmologic assessments, OCT, EEG, cardiology assessments, cognitive assessments, developmental scales, clinical rating scales).
Establish well characterized Natural History Cohorts from genetically defined NCL patients to provide these as Natural History Control Cohorts for new experimental therapy trials.
Time frame: Up to 30 years
Analysis of retrospective and prospective data from patient interviews and medical chart review as well as clinical routine follow up exams (e.g. brain imaging MRI, ophthalmologic assessments, OCT, EEG, cardiology assessments, cognitive assessments, developmental scales, clinical rating scales).
2 secondary outcomes
Establish a biorepository of samples from genetically defined NCL patients.
Time frame: Up to 30 years
Establish a virtual biorepository from genetically defined NCL patients within the DEM-CHILD Database.
Time frame: Up to 30 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2021.
- Background: PubMed 31863828Rietdorf K, Coode EE, Schulz A, Wibbeler E, Bootman MD, Ostergaard JR. Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165643. doi: 10.1016/j.bbadis.2019.165643. Epub 2019 Dec 19.
- Background: PubMed 30119717Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschutter A, Sondhi D, Schulz A. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. Lancet Child Adolesc Health. 2018 Aug;2(8):582-590. doi: 10.1016/S2352-4642(18)30179-2. Epub 2018 Jul 2.
- Background: PubMed 29688815Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschutter A; CLN2 Study Group. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.
- Background: PubMed 31283065Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. Hum Mutat. 2019 Nov;40(11):1924-1938. doi: 10.1002/humu.23860. Epub 2019 Jul 26.
- Background: PubMed 27553878Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvorakova L, Giugliani R, Izzo E, Jahnova H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25.
- Background: PubMed 28542837Simonati A, Williams RE, Nardocci N, Laine M, Battini R, Schulz A, Garavaglia B, Moro F, Pezzini F, Santorelli FM. Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5. Dev Med Child Neurol. 2017 Aug;59(8):815-821. doi: 10.1111/dmcn.13473. Epub 2017 May 25.
- Background: PubMed 19309691Lebrun AH, Storch S, Ruschendorf F, Schmiedt ML, Kyttala A, Mole SE, Kitzmuller C, Saar K, Mewasingh LD, Boda V, Kohlschutter A, Ullrich K, Braulke T, Schulz A. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. Hum Mutat. 2009 May;30(5):E651-61. doi: 10.1002/humu.21010.
- Background: PubMed 28335910Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Lobbecke I, West A, Zernikow B, Schulz A. Management Strategies for CLN2 Disease. Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4.
- Background: PubMed 30877620Kohlschutter A, Schulz A, Bartsch U, Storch S. Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses. CNS Drugs. 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8.
- Background: PubMed 27231226Lobel U, Sedlacik J, Nickel M, Lezius S, Fiehler J, Nestrasil I, Kohlschutter A, Schulz A. Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression. AJNR Am J Neuroradiol. 2016 Oct;37(10):1938-1943. doi: 10.3174/ajnr.A4816. Epub 2016 May 26.
- Background: PubMed 26486417Dulz S, Wagenfeld L, Nickel M, Richard G, Schwartz R, Bartsch U, Kohlschutter A, Schulz A. Novel morphological macular findings in juvenile CLN3 disease. Br J Ophthalmol. 2016 Jun;100(6):824-8. doi: 10.1136/bjophthalmol-2015-307320. Epub 2015 Oct 20.
- Background: PubMed 32707205Dulz S, Atiskova Y, Wibbeler E, Wildner J, Wagenfeld L, Schwering C, Nickel M, Bartsch U, Spitzer MS, Schulz A. An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease. Am J Ophthalmol. 2020 Dec;220:64-71. doi: 10.1016/j.ajo.2020.07.015. Epub 2020 Jul 21.
- Individual participant dataSharing planned: Yes. The goal of the independent international DEM-CHILD DB is to collect high quality natural history data of NCL patients. The independent nature of the database allows to make data available for international research on treatment evaluation and development.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Angela Schulz, MD, PhD principal investigator
Head of NCL-Specialty Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuronal Ceroid Lipofuscinosis and Batten Disease, run by Universitätsklinikum Hamburg-Eppendorf at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 Oct 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Miriam Nickel, MD (+4940741020440, m.nickel@uke.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of key symptoms of disease, natural history of disease progression and development of quantitative tools for rating disease progression that can be used as therapeutic outcome measures for emerging experimental therapies. (time frame: Up to 30 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04613089, which also lists 18 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2021.