Niemann-Pick Disease, Type CNCT00344331
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
An observational study of Niemann-Pick Disease, Type C, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial summary
This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. Read more about this study
- Who is it for?
- Ages 1 day to 120 yearsHealthy volunteers can take part
- Conditions the study is for
- Niemann-Pick Disease, Type C
- How many people
- 900 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Aug 2006to not given
- 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 1 day to 120 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients of any age with Niemann-Pick type C
Who may be able to join
- Affected Subjects
- The following individuals may be enrolled as in this study:
- All patients with a diagnosis of NPC, based on clinical presentation, biochemical, or molecular.
- Both NPC1 and NPC2 patients.
- Patients of any age
- Males or females
- Any ethnic background
Who cannot join
- Individuals will not be enrolled in this study if:
- They cannot travel to the NIH because of their medical condition or are too ill to be cared for at home.
- They have rapidly progressive neonatal cholestasis.
- They are pregnant (a negative urine pregnancy test will be required for any menstruating female before participation in this study and at each NIH Clinical Center admission).
- Unaffected Subjects
- Individuals may be enrolled for data and biospecimen collection if:
Show all 12Show fewer
- They are a known NPC1 or NPC2 heterozygote and consent to specimen collection (as specified in the protocol) from the carrier population.
- There is no diagnosis or suspicion of NPC disease, and consent is provided to be included in the control or caregiver population.
- Individuals will not be enrolled for biospecimen collection if:
- Consent is not provided
- They have a contraindication to the method of specimen collection
- Patients will be excluded from the MRI section of the study if they have a contraindication to MRI or if they do not meet the safety criteria established by the NIH Clinical Center radiology department for MRI scanning.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial.
Patients of any age with NPC may be eligible for this study. Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center.
- Medical evaluation, including medical history, physical exam, neurological exam, neuropsychometric evaluation, and blood and urine tests.
- Lumbar puncture (spinal tap): A sample of cerebrospinal fluid (CSF), the fluid that bathes the brain and spinal cord, is obtained for study. After administration of a local anesthetic, a small needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord. A small amount of fluid is collected through the needle.
- Eye exam and eye movement study: The pupils of the eye are dilated to examine the structures of the eyes. For the eye movement study a special contact lens is placed on the eye and the patient looks at a series of target light spots moving on a screen.
- Hearing tests.
- Electroretinography (in patients who can cooperate with the test) to measure the function of the retina. Before the test, the patient's pupils are dilated and an electrode (small silver disk) is taped to the forehead. The patient sits in a dark room for 30 minutes and then a special contact lens is placed on one eye after it has been numbed with drops. The contact lens senses small electrical signals generated by the retina when lights flash. During the ERG recording, the eye is stimulated with flashes of light projected inside a hollow sphere. After the test, a full eye exam is done and photographs of the retina are taken.
- Magnetic resonance imaging (MRI): This test uses a magnetic field and radio waves to produce images of the brain and obtain information about brain chemicals. The patient lies on a table that can slide in and out of the scanner (a narrow cylinder), wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. Patients who cannot remain still in the scanner may be sedated for the test.
- Psychometric testing: Patients complete questionnaires.
- Photographs of the patient may be taken for use in teaching sessions or scientific presentations or publications, with the patient's consent. Patients may be recognizable, but are not identified by name.
- Pregnancy test in all female patients over 10 years of age at the beginning of each admission to the Clinical Center.
Read the detailed description
Niemann-Pick type C disease (NPC) is an autosomal recessive, lysosomal storage disorder characterized by accumulation of cholesterol and gangliosides. NPC is a rare (estimated prevalence of 1:120,000-150,000) neurodegenerative disorder with a wide clinical spectrum and a variable age of onset. Classically, children with NPC demonstrate neurological dysfunction with cerebellar ataxia, dysarthria, seizures, vertical gaze palsy, motor impairment, dysphagia, psychotic episodes, and progressive dementia. In general, adolescent and adult onset forms have a more insidious onset and slower progression.
There is no effective treatment for NPC and it is a lethal disorder. A major impediment to the testing of therapeutic interventions is the lack of well-defined outcome measures. The purpose of this protocol is to obtain both baseline and rate of progression data on clinical and biochemical markers that may later be used as an outcome measure in a clinical trial.
- Conditions
- Niemann-Pick Disease, Type C
- Keywords
- Lysosomal Storage, Biomarkers, Longitudinal, Natural History, Niemann Pick Type C, NPC, Lysosomal Storage Disorder
- Medical subject headings
- Niemann-Pick Disease, Type C, Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Healthy Volunteers | Volunteers may be of varying age, with no contraindication to collection of biospecimen. | |
| Patients with a diagnosis of Niemann-Pick type C (NPC) of either sex and any age | Participants may range from neurologically asymptomatic to severe and may have liver disease or unrelated comorbidities, but must be stable enough to safely travel and tolerate medical evaluations. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Plasma Oxysterols
Oxysterols such as 24S-hydroxycholesterol, 25-hydroxycholesterol, and 27-hydroxycholesterol are derived from cholesterol and play a role in cholesterol homeostasis. No data is available on endogenous oxysterol levels in NPC patients. We plan to measure oxysterol levels in both serum and CSF and correlate these levels with disease status and progression.
Measured: Ad Hoc
Clinical & Biochemical Markers
Identify a clinical and/or biochemical marker that can be used as a therapeutic outcome measure for NPC.
Measured: Ad Hoc
Define Rate of Progression
Define rate of progression of biochemical marker abnormalities in <TAB>NPC patients for future therapeutic indication.
Measured: Ad Hoc
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jun 2006 (estimated)
- Study start14 Aug 2006
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for Niemann-Pick Disease, Type CStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 900 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Forbes D Porter, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00344331
- Sponsor's protocol ID
- 060186
- Other IDs
- 06-CH-0186
- Status last verified
- 14 Oct 2026
- First submitted
- 23 Jun 2006
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Data from this study will be coded and shared in aggregate.
Publications
Solomon BI, Smith AC, Sinaii N, Farhat N, King MC, Machielse L, Porter FD. Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1. JAMA Neurol. 2020 Dec 1;77(12):1564-1568. doi: 10.1001/jamaneurol.2020.3241.
PubMed 32897301Singhal K, Menold MT, Cawley NX, Campbell K, Farhat NY, Alexander D, Dale RK, Porter FD. Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1. Biomark Res. 2026 May 9;14(1):63. doi: 10.1186/s40364-026-00927-x.
PubMed 42106890Singhal K, Menold MT, Cawley NX, Campbell K, Farhat NY, Alexander D, Dale RK, Porter FD. Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1. Res Sq [Preprint]. 2026 Feb 23:rs.3.rs-8833559. doi: 10.21203/rs.3.rs-8833559/v1.
PubMed 42052237Singhal K, Menold MT, Cawley NX, Campbell K, Farhat NY, Alexander D, Dale RK, Porter FD. Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1. medRxiv [Preprint]. 2026 Jan 18:2026.01.12.26343721. doi: 10.64898/2026.01.12.26343721.
PubMed 41742944Farmer C, Lewis M, Farhat N, Robbins KP, Joseph L, Albert OK, Bianconi S, Hoffmann A, Giserman-Kiss I, Alexander DM, Thurm A, Porter FD, Kravis EB. Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale. J Child Neurol. 2026 Jan;41(1):43-53. doi: 10.1177/08830738251346348. Epub 2025 Jun 17.
PubMed 40525490Solomon BI, Munoz AM, Sinaii N, Mohamed H, Farhat NM, Alexander D, Do AD, Porter FD. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients. Orphanet J Rare Dis. 2024 Jun 11;19(1):231. doi: 10.1186/s13023-024-03241-7.
PubMed 38863022Campbell K, Cawley NX, Luke R, Scott KEJ, Johnson N, Farhat NY, Alexander D, Wassif CA, Li W, Cologna SM, Berry-Kravis E, Do AD, Dale RK, Porter FD. Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1. Biomark Res. 2023 Jan 31;11(1):14. doi: 10.1186/s40364-023-00448-x.
PubMed 36721240Solomon BI, Munoz AM, Sinaii N, Farhat NM, Smith AC, Bianconi S, Dang Do A, Backman MC, Machielse L, Porter FD. Phenotypic expression of swallowing function in Niemann-Pick disease type C1. Orphanet J Rare Dis. 2022 Sep 5;17(1):342. doi: 10.1186/s13023-022-02472-w.
PubMed 36064725Thurm A, Chlebowski C, Joseph L, Farmer C, Adedipe D, Weiss M, Wiggs E, Farhat N, Bianconi S, Berry-Kravis E, Porter FD. Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul;41(5):388-396. doi: 10.1097/DBP.0000000000000785.
PubMed 32073546
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
- ClinicalTrials.gov ID
- NCT00344331
- Acronym / sponsor ID
- 060186
- Conditions
- Niemann-Pick Disease, Type C
- Keywords
- Lysosomal Storage, Biomarkers, Longitudinal, Natural History, Niemann Pick Type C, NPC, Lysosomal Storage Disorder
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 900 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 14 Aug 2006 (actual)
- First posted
- 26 Jun 2006 (estimated)
- 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 study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial.
Patients of any age with NPC may be eligible for this study. Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center.
- Medical evaluation, including medical history, physical exam, neurological exam, neuropsychometric evaluation, and blood and urine tests.
- Lumbar puncture (spinal tap): A sample of cerebrospinal fluid (CSF), the fluid that bathes the brain and spinal cord, is obtained for study. After administration of a local anesthetic, a small needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord. A small amount of fluid is collected through the needle.
- Eye exam and eye movement study: The pupils of the eye are dilated to examine the structures of the eyes. For the eye movement study a special contact lens is placed on the eye and the patient looks at a series of target light spots moving on a screen.
- Hearing tests.
- Electroretinography (in patients who can cooperate with the test) to measure the function of the retina. Before the test, the patient's pupils are dilated and an electrode (small silver disk) is taped to the forehead. The patient sits in a dark room for 30 minutes and then a special contact lens is placed on one eye after it has been numbed with drops. The contact lens senses small electrical signals generated by the retina when lights flash. During the ERG recording, the eye is stimulated with flashes of light projected inside a hollow sphere. After the test, a full eye exam is done and photographs of the retina are taken.
- Magnetic resonance imaging (MRI): This test uses a magnetic field and radio waves to produce images of the brain and obtain information about brain chemicals. The patient lies on a table that can slide in and out of the scanner (a narrow cylinder), wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. Patients who cannot remain still in the scanner may be sedated for the test.
- Psychometric testing: Patients complete questionnaires.
- Photographs of the patient may be taken for use in teaching sessions or scientific presentations or publications, with the patient's consent. Patients may be recognizable, but are not identified by name.
- Pregnancy test in all female patients over 10 years of age at the beginning of each admission to the Clinical Center.
Detailed description
Niemann-Pick type C disease (NPC) is an autosomal recessive, lysosomal storage disorder characterized by accumulation of cholesterol and gangliosides. NPC is a rare (estimated prevalence of 1:120,000-150,000) neurodegenerative disorder with a wide clinical spectrum and a variable age of onset. Classically, children with NPC demonstrate neurological dysfunction with cerebellar ataxia, dysarthria, seizures, vertical gaze palsy, motor impairment, dysphagia, psychotic episodes, and progressive dementia. In general, adolescent and adult onset forms have a more insidious onset and slower progression.
There is no effective treatment for NPC and it is a lethal disorder. A major impediment to the testing of therapeutic interventions is the lack of well-defined outcome measures. The purpose of this protocol is to obtain both baseline and rate of progression data on clinical and biochemical markers that may later be used as an outcome measure in a clinical trial.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Healthy Volunteers | – | –Volunteers may be of varying age, with no contraindication to collection of biospecimen. |
| Patients with a diagnosis of Niemann-Pick type C (NPC) of either sex and any age | – | –Participants may range from neurologically asymptomatic to severe and may have liver disease or unrelated comorbidities, but must be stable enough to safely travel and tolerate medical evaluations. |
Who may qualify
- Ages
- 1 day to 120 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients of any age with Niemann-Pick type C
Key inclusion criteria (7 listed)
- Affected Subjects
- All patients with a diagnosis of NPC, based on clinical presentation, biochemical, or molecular.
- Both NPC1 and NPC2 patients.
- Patients of any age
- Males or females
Key exclusion criteria (12 listed)
- They cannot travel to the NIH because of their medical condition or are too ill to be cared for at home.
- They have rapidly progressive neonatal cholestasis.
- They are pregnant (a negative urine pregnancy test will be required for any menstruating female before participation in this study and at each NIH Clinical Center admission).
- Unaffected Subjects
- They are a known NPC1 or NPC2 heterozygote and consent to specimen collection (as specified in the protocol) from the carrier population.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Plasma Oxysterols
Time frame: Ad Hoc
Oxysterols such as 24S-hydroxycholesterol, 25-hydroxycholesterol, and 27-hydroxycholesterol are derived from cholesterol and play a role in cholesterol homeostasis. No data is available on endogenous oxysterol levels in NPC patients. We plan to measure oxysterol levels in both serum and CSF and correlate these levels with disease status and progression.
Clinical & Biochemical Markers
Time frame: Ad Hoc
Identify a clinical and/or biochemical marker that can be used as a therapeutic outcome measure for NPC.
Define Rate of Progression
Time frame: Ad Hoc
Define rate of progression of biochemical marker abnormalities in <TAB>NPC patients for future therapeutic indication.
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 26 Oct 2026.
- Background: PubMed 32897301Solomon BI, Smith AC, Sinaii N, Farhat N, King MC, Machielse L, Porter FD. Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1. JAMA Neurol. 2020 Dec 1;77(12):1564-1568. doi: 10.1001/jamaneurol.2020.3241.
- Derived from this study: PubMed 42106890Singhal K, Menold MT, Cawley NX, Campbell K, Farhat NY, Alexander D, Dale RK, Porter FD. Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1. Biomark Res. 2026 May 9;14(1):63. doi: 10.1186/s40364-026-00927-x.
- Derived from this study: PubMed 42052237Singhal K, Menold MT, Cawley NX, Campbell K, Farhat NY, Alexander D, Dale RK, Porter FD. Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1. Res Sq [Preprint]. 2026 Feb 23:rs.3.rs-8833559. doi: 10.21203/rs.3.rs-8833559/v1.
- Derived from this study: PubMed 41742944Singhal K, Menold MT, Cawley NX, Campbell K, Farhat NY, Alexander D, Dale RK, Porter FD. Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1. medRxiv [Preprint]. 2026 Jan 18:2026.01.12.26343721. doi: 10.64898/2026.01.12.26343721.
- Derived from this study: PubMed 40525490Farmer C, Lewis M, Farhat N, Robbins KP, Joseph L, Albert OK, Bianconi S, Hoffmann A, Giserman-Kiss I, Alexander DM, Thurm A, Porter FD, Kravis EB. Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale. J Child Neurol. 2026 Jan;41(1):43-53. doi: 10.1177/08830738251346348. Epub 2025 Jun 17.
- Derived from this study: PubMed 38863022Solomon BI, Munoz AM, Sinaii N, Mohamed H, Farhat NM, Alexander D, Do AD, Porter FD. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients. Orphanet J Rare Dis. 2024 Jun 11;19(1):231. doi: 10.1186/s13023-024-03241-7.
- Derived from this study: PubMed 36721240Campbell K, Cawley NX, Luke R, Scott KEJ, Johnson N, Farhat NY, Alexander D, Wassif CA, Li W, Cologna SM, Berry-Kravis E, Do AD, Dale RK, Porter FD. Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1. Biomark Res. 2023 Jan 31;11(1):14. doi: 10.1186/s40364-023-00448-x.
- Derived from this study: PubMed 36064725Solomon BI, Munoz AM, Sinaii N, Farhat NM, Smith AC, Bianconi S, Dang Do A, Backman MC, Machielse L, Porter FD. Phenotypic expression of swallowing function in Niemann-Pick disease type C1. Orphanet J Rare Dis. 2022 Sep 5;17(1):342. doi: 10.1186/s13023-022-02472-w.
- Derived from this study: PubMed 32073546Thurm A, Chlebowski C, Joseph L, Farmer C, Adedipe D, Weiss M, Wiggs E, Farhat N, Bianconi S, Berry-Kravis E, Porter FD. Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul;41(5):388-396. doi: 10.1097/DBP.0000000000000785.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No. Data from this study will be coded and shared in aggregate.
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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.
Forbes D Porter, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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 Niemann-Pick Disease, Type C, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
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 7 inclusion and 12 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 26 Oct 2026. 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 United States. 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 Derek M Alexander ((301) 827-0387, derek.alexander@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Plasma Oxysterols (time frame: Ad Hoc). The study lists 3 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 NCT00344331, which also lists 9 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 26 Oct 2026.