Dental-Oral and Craniofacial Characteristics of Hereditary Spastic Paraplegia: A Preliminary Study

NCT07799233 | Completed

• 1 other identifier: 45/2025
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to analyze the oral and craniofacial characteristics associated with Hereditary Spastic Paraplegia (HSP) using non-invasive complementary diagnostic tests, with the hypotesis that there is a characteristic phenotype of PEF that specifically affects the stomatognathic system. This is a preliminary observational, cross-sectional, and exploratory study. The study population includes 25 individuals with HSP and 25 control individuals with a similar age range. Functional clinical examination, intraoral scanning, panoramic radiography, and lateral cephalometric radiography were used to assess functional variables, periodontal alterations, intra- and interarch relationships, and cephalometric variables according to the Ricketts and Steiner analyses. Posterior cervical soft tissue thickness was also evaluated. Statistical analysis included between-group comparisons, effect size measures, logistic regression, and ROC analysis to determine the discriminative capacity of the studied variables.

Conditions

Hereditary Spastic Paraplegia

Keywords

Dental-Oral; Craniofacial; Dentistry; Hereditary Spastic Paraplegia

Outcome Measures

Primary Outcomes (16)

• ANB, SNA, and SNB angles

  Measurements of the ANB, SNA, and SNB angles obtained from lateral cephalograms. These measurements were used to assess the sagittal relationship between the maxilla and the mandible relative to the cranial base and to evaluate their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Position and inclination of the upper and lower incisors

  Measurements of the position and inclination of the upper and lower incisors obtained from lateral cephalograms. These measurements were used to assess sagittal protrusion, retrusion, and incisor inclination, and to evaluate their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Facial convexity and lower facial height

  Measurements of facial convexity and lower facial height obtained from lateral cephalograms. These measurements were used to assess the sagittal and vertical relationships between the maxilla and the mandible and to evaluate their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Facial depth, facial axis, and maxillary depth

  Measurements of facial depth, facial axis, and maxillary depth obtained from lateral cephalograms. These measurements were used to assess the sagittal and vertical positions of the maxilla and mandible relative to the cranial base and to evaluate their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Cranial deflection, anterior cranial length, and mandibular body length

  Measurements of cranial deflection, anterior cranial length, and mandibular body length obtained from lateral cephalograms. These measurements were used to characterize craniofacial skeletal morphology and to evaluate their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Assessment of congenital dental anomalies

  To evaluate the correlation between congenital dental anomalies involving tooth number, position, morphology, and other developmental alterations identified on panoramic radiographs and the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Assessment of caries experience (DMFT index)

  To evaluate the correlation between caries experience, assessed using the DMFT (Decayed, Missing, and Filled Teeth) index from panoramic radiographs and anamnesis, and the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Overjet and overbite

  Measurements of overjet and overbite obtained from intraoral digital scans. These measurements were used to assess the sagittal and vertical relationships between the upper and lower incisors and to evaluate their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Molar and canine occlusal relationships

  Assessment of molar and canine occlusal relationships using intraoral digital scans. These measurements were used to evaluate occlusal relationships and to assess their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Transverse occlusal discrepancies

  Assessment of transverse occlusal discrepancies using intraoral digital scans. These measurements were used to evaluate transverse occlusal relationships and to assess their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Dental crowding

  Assessment of dental crowding using intraoral digital scans. These measurements were used to evaluate dental arch space discrepancies and to assess their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Congenital dental anomalies

  Assessment of congenital dental anomalies affecting tooth size, shape, structure, and other developmental characteristics using intraoral digital scans. These findings were used to evaluate the presence of developmental dental anomalies and to assess their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• History of upper airway surgery

  Assessment of a history of upper airway surgery based on medical history (anamnesis). This information was used to evaluate its correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Nocturnal snoring

  Assessment of nocturnal snoring based on medical history (anamnesis). This information was used to evaluate its correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Nostril characteristics, swallowing pattern, and tongue mobility

  Assessment of nostril characteristics, swallowing pattern, and tongue mobility based on functional clinical examination. These findings were used to evaluate their correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

• Breathing mode

  Assessment of breathing mode (nasal, oral, or mixed) based on medical history (anamnesis) and functional clinical examination. This assessment was used to evaluate its correlation with the presence of PEF.

  Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.

Study Arms (2)

Patients Diagnosed with Hereditary Spastic Paraplegia

Patients with Hereditary Spastic Paraplegia who haven't undergone orthognathic surgery or orthodontic, orthopedic, or functional treatment.

Patients Non Diagnosed with Hereditary Spastic Paraplegia

Patients Non Diagnosed with Hereditary Spastic Paraplegia who hadn't undergone orthognathic surgery or orthodontic, orthopedic, or functional treatment

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Members of the Catalan branch of the Spanish Hereditary Spastic Paraplegia Association.

You may qualify if:

• Confirmed diagnosis of HSP.
• Caucasian ethnicity.

You may not qualify if:

• Patients with HSP who have undergone orthognathic surgery or orthodontic, orthopedic, or functional treatment.

Sponsors & Collaborators

• University of Barcelona: lead

Study Sites (1)

Hospital Odontològic de la Universitat de Barcelona

L'Hospitalet de Llobregat, Barcelona, 08907, Spain

Location

MeSH Terms

Conditions

Spastic Paraplegia, Hereditary

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Target Duration: 50 Days
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dentist

Study Record Dates

• First Submitted: June 18, 2026
• First Posted: September 2, 2026
• Study Start: October 15, 2025
• Primary Completion: February 27, 2026
• Study Completion: April 30, 2026
• Last Updated: September 2, 2026

Record last verified: 2026-08

Locations

ES (1)